Variant report

Variant	esv3360098
Chromosome Location	chr1:103491889-103494137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200821950	chr1:103491892-103491893	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530565995	chr1:103491898-103491899	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375217785	chr1:103491923-103491924	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551516124	chr1:103491951-103491952	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548659290	chr1:103492018-103492019	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74606576	chr1:103492024-103492025	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528657573	chr1:103492059-103492060	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78438559	chr1:103492077-103492078	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571816114	chr1:103492094-103492095	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78668559	chr1:103492108-103492109	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369033129	chr1:103492111-103492112	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557349080	chr1:103492142-103492143	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192285040	chr1:103492144-103492145	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528650803	chr1:103492155-103492156	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536775449	chr1:103492159-103492160	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28700094	chr1:103492163-103492164	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551516731	chr1:103492168-103492169	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs67985164	chr1:103492179-103492180	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71667600	chr1:103492182-103492183	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573800622	chr1:103492189-103492190	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540831672	chr1:103492203-103492204	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201153746	chr1:103492204-103492205	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553241222	chr1:103492248-103492249	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77847487	chr1:103492268-103492269	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72683299	chr1:103492272-103492273	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143101451	chr1:103492318-103492319	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530409968	chr1:103492342-103492343	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542342585	chr1:103492358-103492359	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182893733	chr1:103492360-103492361	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76617429	chr1:103492367-103492368	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546840872	chr1:103492375-103492376	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34583128	chr1:103492433-103492434	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573152078	chr1:103492436-103492437	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557058301	chr1:103492480-103492481	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532905686	chr1:103492514-103492515	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575314078	chr1:103492569-103492570	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551289628	chr1:103492606-103492607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373688244	chr1:103492618-103492619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535818311	chr1:103492619-103492620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569299150	chr1:103492694-103492695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542888071	chr1:103492732-103492733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536617477	chr1:103492745-103492746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561527513	chr1:103492825-103492826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555060234	chr1:103492840-103492841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573308545	chr1:103492862-103492863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555722616	chr1:103492864-103492865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3934352	chr1:103492900-103492901	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534818302	chr1:103492948-103492949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375561451	chr1:103492953-103492954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369742125	chr1:103492954-103492955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103369600-103498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103446800-103497800	Weak transcription	HSMM	muscle
3	chr1:103449200-103545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:103460200-103516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:103475800-103516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:103487000-103492200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:103487600-103493600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:103489200-103516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:103489600-103506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:103491200-103492400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:103491400-103492000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:103491400-103492000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:103491600-103492000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:103491600-103492000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:103491600-103503800	Weak transcription	NH-A	brain
16	chr1:103491800-103492600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:103492000-103496400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:103492200-103493000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:103492400-103497200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:103492600-103493800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:103493000-103494000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:103493800-103495600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:103494000-103500200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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